昆明地区儿童地中海贫血筛查和基因诊断分析

目的：调查云南省昆明地区儿童地中海贫血（地贫）基因突变类型和频率。方法对昆明地区1338例儿童进行RBC脆性、MCV、血红蛋白电泳生化筛查。对筛查阳性的α-地贫患儿用gap-PCR方法、β-地贫用PCR-RDB方法进行基因诊断。结果地贫生化筛查阳性率为11.36%(152 例)，基因诊断阳性率为8.59% (115 例)。115例经基因诊断确诊为地贫的样本中，α-地贫43例，β-地贫68例，α合并β地贫4例；43例α-地贫中，--SEA/αα型占47%，-α4.2 /αα型占21%，HbH病占14%；68例β-地贫共检测出6个基因位点发生突变，突变频率依次为βE（32%）、CD41-42（24%）、CD17（23%）、IVS-II654（10%）、CD71-72（10%）、-28（1%）。结论 昆明地区儿童地贫基因突变率较高，开展婚检及产检生化筛查和基因诊断十分必要。

Biochemical screening and genetic diagnosis of thalassemia in children from Kunming

Objective To investigate the types and frequency of gene mutations in children with thalassemia in Kunming,Yunan Province.Methods A biochemical screening for thalassemia was performed by testing RBC fragility,MCV and hemoglobin electrophoresis on 1338 children from Kunming,Yunnan Province.Genetic diagnosis was performed on the children with α-thalassemia by gap-PCR and on the children with β-thalassemia by PCR-RDB.Results The positive rate of the biochemical screening for thalassemia was 11.36%(152 cases).The positive rate of genetic diagnosis was 8.59%(115 cases).Of the 115 cases,α-thalassemia was found in 43 cases,β-thalassemia in 68 cases and α-combined-β thalassemia in 4 cases.——SEA/αα accounted for 47%,-α4.2/αα accounted for 21%,and HbH disease accounted for 14%.Six genotypes were found in 68 cases of β-thalassemia and the mutation frequency of βE was the highest(32%),followed by CD41-42(24%),CD17(23%),IVS-II654(10%),CD71-72(10%),and-28(1%).Conclusions The frequency of gene mutations for thalassemia is high in children from Kunming,Yunnan Province.Premarital and prenatal screenings and genetic diagnosis for thalassemia should be carried out in this area.